Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor

Parkinsonism Relat Disord. 2016 Jul:28:163-5. doi: 10.1016/j.parkreldis.2016.04.003. Epub 2016 Apr 4.
No abstract available

Keywords: Genetics; Leukodystrophies; MRI; Tremor.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Basal Ganglia Diseases / diagnostic imaging
  • Basal Ganglia Diseases / genetics*
  • Basal Ganglia Diseases / pathology*
  • Calcinosis / diagnostic imaging
  • Calcinosis / genetics*
  • Calcinosis / pathology*
  • Hamartoma Syndrome, Multiple / diagnostic imaging
  • Hamartoma Syndrome, Multiple / genetics*
  • Hamartoma Syndrome, Multiple / pathology*
  • Humans
  • Leukoencephalopathies / diagnostic imaging
  • Leukoencephalopathies / genetics*
  • Leukoencephalopathies / pathology*
  • Magnetic Resonance Imaging
  • Male
  • Megalencephaly / diagnostic imaging
  • Megalencephaly / genetics
  • PTEN Phosphohydrolase / genetics*
  • Tremor / genetics*
  • Tremor / pathology*

Substances

  • PTEN Phosphohydrolase
  • PTEN protein, human